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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria
Journal of the American Society of Nephrology, Volume 22, No. 10, Year 2011
Notification
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Description
In two siblings of consanguineous parents with intermittent nephrotic-range proteinuria, we identified a homozygous deleterious frameshift mutation in the gene CUBN, which encodes cubulin, using exome capture and massively parallel resequencing. The mutation segregated with affected members of this family and was absent from 92 healthy individuals, thereby identifying a recessive mutation in CUBN as the single-gene cause of proteinuria in this sibship. Cubulin mutations cause a hereditary form of megaloblastic anemia secondary to vitamin B 12 deficiency, and proteinuria occurs in 50% of cases since cubilin is coreceptor for both the intestinal vitamin B 12-intrinsic factor complex and the tubular reabsorption of protein in the proximal tubule. In summary, we report successful use of exome capture and massively parallel re-sequencing to identify a rare, single-gene cause of nephropathy. Copyright © 2011 by the American Society of Nephrology.
Authors & Co-Authors
Ovunc, Bugsu
United States, Ann Arbor
University of Michigan, Ann Arbor
Turkey, Ankara
Hacettepe Üniversitesi
Otto, Edgar A.
United States, Ann Arbor
University of Michigan, Ann Arbor
Vega-Warner, Virginia
United States, Ann Arbor
University of Michigan, Ann Arbor
Saisawat, Pawaree
United States, Ann Arbor
University of Michigan, Ann Arbor
Ashraf, Shazia
United States, Ann Arbor
University of Michigan, Ann Arbor
Ramaswami, Gokul
United States, Ann Arbor
University of Michigan, Ann Arbor
Fathy, Hanan M.
Egypt, Alexandria
Faculty of Medicine
Schoeb, Dominik Stefan
United States, Ann Arbor
University of Michigan, Ann Arbor
Chernin, Gil
United States, Ann Arbor
University of Michigan, Ann Arbor
Lyons, Robert H.
United States, Ann Arbor
University of Michigan, Ann Arbor
Yilmaz, Engin
Turkey, Ankara
Hacettepe Üniversitesi
Hildebrandt, Friedhelm
United States, Ann Arbor
University of Michigan, Ann Arbor
United States, Ann Arbor
Michigan Medicine
Statistics
Citations: 95
Authors: 12
Affiliations: 4
Identifiers
Doi:
10.1681/ASN.2011040337
ISSN:
10466673
Research Areas
Cancer
Genetics And Genomics